p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients-Reference-Cited by-同舟云学术

p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients

Author:

Pasqualim G.¹²,Ribeiro M.G.³,da Fonseca G.G.G.³,Szlago M.⁴,Schenone A.⁴,Lemes A.⁵,Rojas M.V.M.⁶,Matte U.¹²⁷⁸,Giugliani R.¹²⁷⁸⁹

Affiliation:

1. Post-Graduate Program on Genetics and Molecular Biology; UFRGS; Porto Alegre Brazil

2. Gene Therapy Center, Experimental Research Center; Hospital de Clínicas de Porto Alegre; Porto Alegre Brazil

3. Instituto de Puericultura e Pediatria Martagão Gesteira; Universidade Federal do Rio de Janeiro, Cidade Universitária; Rio de Janeiro Brazil

4. Fundación para el Estudio de las Enfermedades metabólicas (FESEN); Buenos Aires Argentina

5. Instituto de Genética Médica; Hospital Italiano; Montevideo Uruguay

6. Genzyme; Genzyme Latin America - A Sanofi Company; Rio de Janeiro Brazil

7. Department of Genetics; UFRGS; Porto Alegre Brazil

8. INAGEMP; Porto Alegre Brazil

9. Medical Genetics Service; Hospital de Clinicas de Porto Alegre; Porto Alegre Brazil

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference16 articles.

1. http://www.hgmd.org

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